Full data view for gene APRT

Information The variants shown are described using the NM_000485.2 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-19T>A r.(=) p.(=) g.88878326A>T Copied from the Exome Variant Server APRT_000059 3/12240 0/8136 3/4104 - - - - - - -
?/? c.-8A>G r.(=) p.(=) g.88878315T>C Copied from the Exome Variant Server APRT_000058 1/12380 0/8230 1/4150 - - - - - - -
?/? c.-2C>T r.(=) p.(=) g.88878309G>A Copied from the Exome Variant Server APRT_000057 2/12450 0/8268 2/4182 - - - - - - -
?/? c.80+52G>T r.(=) p.(=) g.88878176C>A Copied from the Exome Variant Server APRT_000056 163/9314 3/6562 160/2752 - - - - - - -
?/? c.90G>T r.(=) p.(=) g.88878055C>A Copied from the Exome Variant Server APRT_000055 139/12606 2/8368 137/4238 - - - - - - -
?/? c.92C>T r.(?) p.(Pro31Leu) g.88878053G>A Copied from the Exome Variant Server APRT_000054 1/12612 0/8372 1/4240 - - - - - - -
?/? c.97C>T r.(=) p.(=) g.88878048G>A Copied from the Exome Variant Server APRT_000053 241/12598 212/8350 29/4248 - - - - - - -
?/? c.162C>T r.(=) p.(=) g.88877983G>A Copied from the Exome Variant Server APRT_000052 47/12590 45/8360 2/4230 - - - - - - -
?/? c.170G>T r.(?) p.(Arg57Leu) g.88877975C>A Copied from the Exome Variant Server APRT_000051 1/12596 0/8364 1/4232 - - - - - - -
?/? c.183C>A r.(=) p.(=) g.88877962G>T Copied from the Exome Variant Server APRT_000050 1/12470 0/8278 1/4192 - - - - - - -
?/? c.185C>T r.(?) p.(Ala62Val) g.88877960G>A Copied from the Exome Variant Server APRT_000049 18/12428 0/8252 18/4176 - - - - - - -
?/? c.187+2C>A r.spl? p.? g.88877956G>T Copied from the Exome Variant Server APRT_000048 3/12402 1/8242 2/4160 - - - - - - -
?/? c.187+28C>A r.(=) p.(=) g.88877930G>T Copied from the Exome Variant Server APRT_000047 4/11988 0/7986 4/4002 - - - - - - -
?/? c.187+29G>C r.(=) p.(=) g.88877929C>G Copied from the Exome Variant Server APRT_000046 11/11940 7/7962 4/3978 - - - - - - -
?/? c.188-40T>C r.(=) p.(=) g.88877004A>G Copied from the Exome Variant Server APRT_000045 414/12938 85/8568 329/4370 - - - - - - -
?/? c.188-28G>A r.(=) p.(=) g.88876992C>T Copied from the Exome Variant Server APRT_000044 1/12946 1/8572 0/4374 - - - - - - -
?/? c.199C>T r.(?) p.(Arg67*) g.88876953G>A Copied from the Exome Variant Server APRT_000043 1/12968 1/8582 0/4386 - - - - - - -
?/? c.216C>A r.(=) p.(=) g.88876936G>T Copied from the Exome Variant Server APRT_000042 3/12972 3/8584 0/4388 - - - - - - -
?/? c.219C>T r.(=) p.(=) g.88876933G>A Copied from the Exome Variant Server APRT_000041 1/12972 1/8584 0/4388 - - - - - - -
?/? c.264G>A r.(=) p.(=) g.88876888C>T Copied from the Exome Variant Server APRT_000040 3/12988 0/8592 3/4396 - - - - - - -
?/? c.266G>A r.(?) p.(Arg89Gln) g.88876886C>T Copied from the Exome Variant Server APRT_000039 6/12990 6/8594 0/4396 - - - - - - -
?/? c.276G>A r.(=) p.(=) g.88876876C>T Copied from the Exome Variant Server APRT_000038 1/12992 1/8598 0/4394 - - - - - - -
?/? c.321G>A r.(=) p.(=) g.88876831C>T Copied from the Exome Variant Server APRT_000037 1/12978 1/8590 0/4388 - - - - - - -
?/? c.321+37C>T r.(=) p.(=) g.88876794G>A Copied from the Exome Variant Server APRT_000036 6/12930 4/8562 2/4368 - - - - - - -
?/? c.321+46G>A r.(=) p.(=) g.88876785C>T Copied from the Exome Variant Server APRT_000035 1/12902 1/8542 0/4360 - - - - - - -
?/? c.322-40C>T r.(=) p.(=) g.88876596G>A Copied from the Exome Variant Server APRT_000034 89/12994 0/8600 89/4394 - - - - - - -
?/? c.322-37C>T r.(=) p.(=) g.88876593G>A Copied from the Exome Variant Server APRT_000033 172/12994 1/8600 171/4394 - - - - - - -
?/? c.322-36G>A r.(=) p.(=) g.88876592C>T Copied from the Exome Variant Server APRT_000032 1/12994 0/8600 1/4394 - - - - - - -
?/? c.322-32G>A r.(=) p.(=) g.88876588C>T Copied from the Exome Variant Server APRT_000031 1/12994 1/8600 0/4394 - - - - - - -
?/? c.322-15C>G r.(=) p.(=) g.88876571G>C Copied from the Exome Variant Server APRT_000030 1/12996 0/8600 1/4396 - - - - - - -
?/? c.329T>C r.(?) p.(Leu110Pro) g.88876549A>G Copied from the Exome Variant Server APRT_000029 1/12996 1/8600 0/4396 - - - - - - -
?/? c.341A>C r.(?) p.(Lys114Thr) g.88876537T>G Copied from the Exome Variant Server APRT_000028 8/12996 0/8600 8/4396 - - - - - - -
?/? c.346G>A r.(?) p.(Ala116Thr) g.88876532C>T Copied from the Exome Variant Server APRT_000027 3/12996 1/8600 2/4396 - - - - - - -
?/? c.352G>C r.(?) p.(Glu118Gln) g.88876526C>G Copied from the Exome Variant Server APRT_000026 1/12996 1/8600 0/4396 - - - - - - -
?/? c.362A>G r.(?) p.(Gln121Arg) g.88876516T>C Copied from the Exome Variant Server APRT_000025 18/12996 0/8600 18/4396 - - - - - - -
?/? c.373G>A r.(?) p.(Val125Ile) g.88876505C>T Copied from the Exome Variant Server APRT_000024 3/12996 2/8600 1/4396 - - - - - - -
?/? c.376G>A r.(?) p.(Val126Met) g.88876502C>T Copied from the Exome Variant Server APRT_000023 1/12996 1/8600 0/4396 - - - - - - -
?/? c.400+2_400+3insT r.spl? p.? g.88876475_88876476insA Copied from the Exome Variant Server APRT_000022 1/12516 1/8254 0/4262 - - - - - - -
?/? c.400+14C>T r.(=) p.(=) g.88876464G>A Copied from the Exome Variant Server APRT_000021 5/12996 4/8600 1/4396 - - - - - - -
?/? c.400+15G>A r.(=) p.(=) g.88876463C>T Copied from the Exome Variant Server APRT_000020 4/12996 3/8600 1/4396 - - - - - - -
?/? c.400+28G>A r.(=) p.(=) g.88876450C>T Copied from the Exome Variant Server APRT_000019 1/12994 0/8598 1/4396 - - - - - - -
?/? c.401-51C>T r.(=) p.(=) g.88876299G>A Copied from the Exome Variant Server APRT_000018 17/12976 15/8596 2/4380 - - - - - - -
?/? c.401-44T>C r.(=) p.(=) g.88876292A>G Copied from the Exome Variant Server APRT_000017 2/12976 0/8596 2/4380 - - - - - - -
?/? c.401-6C>T r.(=) p.(=) g.88876254G>A Copied from the Exome Variant Server APRT_000016 1/12988 0/8596 1/4392 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.88876238G>A Copied from the Exome Variant Server APRT_000015 1/12992 0/8598 1/4394 - - - - - - -
?/? c.434G>A r.(?) p.(Arg145His) g.88876215C>T Copied from the Exome Variant Server APRT_000014 1/12990 0/8598 1/4392 - - - - - - -
?/? c.444T>C r.(=) p.(=) g.88876205A>G Copied from the Exome Variant Server APRT_000013 1/12994 0/8598 1/4396 - - - - - - -
?/? c.459C>T r.(=) p.(=) g.88876190G>A Copied from the Exome Variant Server APRT_000012 1/12992 1/8598 0/4394 - - - - - - -
?/? c.460G>A r.(?) p.(Val154Met) g.88876189C>T Copied from the Exome Variant Server APRT_000011 1/12992 1/8598 0/4394 - - - - - - -
?/? c.471G>A r.(=) p.(=) g.88876178C>T Copied from the Exome Variant Server APRT_000010 1/12994 1/8598 0/4396 - - - - - - -
?/? c.501G>C r.(?) p.(Lys167Asn) g.88876148C>G Copied from the Exome Variant Server APRT_000009 1/12996 0/8600 1/4396 - - - - - - -
?/? c.519C>G r.(?) p.(Phe173Leu) g.88876130G>C Copied from the Exome Variant Server APRT_000008 1/12996 0/8600 1/4396 - - - - - - -
?/? c.521T>G r.(?) p.(Phe174Cys) g.88876128A>C Copied from the Exome Variant Server APRT_000007 1/12996 1/8600 0/4396 - - - - - - -
?/? c.521_523del r.(?) p.(Phe174del) g.88876126_88876128del Copied from the Exome Variant Server APRT_000006 31/12518 27/8254 4/4264 - - - - - - -
?/? c.*2C>T r.(=) p.(=) g.88876104G>A Copied from the Exome Variant Server APRT_000005 1/12996 0/8600 1/4396 - - - - - - -
?/? c.*3A>G r.(=) p.(=) g.88876103T>C Copied from the Exome Variant Server APRT_000004 806/12996 2/8600 804/4396 - - - - - - -
?/? c.*14C>T r.(=) p.(=) g.88876092G>A Copied from the Exome Variant Server APRT_000003 1/12996 0/8600 1/4396 - - - - - - -
?/? c.*39_*40del r.(=) p.(=) g.88876066_88876067del Copied from the Exome Variant Server APRT_000002 2/12514 2/8254 0/4260 - - - - - - -
?/? c.*47T>C r.(=) p.(=) g.88876059A>G Copied from the Exome Variant Server APRT_000001 298/12992 102/8600 196/4392 - - - - - - -
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